Article
[Autosomal dominant polycystic kidney disease: from genes to cilium].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia - 1 Jan 2000
Magistroni R, Furci L, Albertazzi A
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD) is a quite frequent monogenic hereditary disease. The incidence has been reported to range between 1:400 and 1:1000 life births. The disease is caused by a mutation of the PKD1 gene in 85% of the cases and by a mutation of the PKD2 gene in the remaining 15%. The main characteristic of this condition is the development of renal cysts. Observations regarding...
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